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Non-Invasive Prenatal Testing (NIPT)

The Pregnancy Experts offer VeriSeq NIPT Solution v2 by Illumina as their chosen NIPT provider. 

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This is the most advanced non-invasive pregnancy screening available for parents who would like to determine if they have a low or high probability of their baby having a genetic condition. The conditions tested for are Down syndrome (trisomy 21), Edward syndrome (trisomy 18) and Patau's syndrome (trisomy 13). Additionally testing for fetal sex chromosome problems and fetal sex can be performed at the parents request. 

 

The test can be taken from as early as 10 weeks or any stage later in the pregnancy. 

Some parents choose to have this test performed prior to their NHS nuchal translucency scan or even later in the pregnancy, after the NHS nuchal translucency or anomaly scan has been performed.

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The test involves taking a blood sample from the mother's arm. This sample can be tested for the presence of cell free DNA (cfDNA) which represents a sample of DNA from the placenta and developing baby. This cfDNA is then analysed and the results determine if there is a low probability or high probability of your developing baby being affected by the screened conditions. 

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Given the test is a simple blood test on the mother, there is no increased risk of miscarriage from having the test performed. 

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The test can be performed in singleton pregnancies (one baby), twin pregnancies, singleton donor and surrogate pregnancies.

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You can choose to find out the sex of your baby from this test - this is an optional test performed at no extra charge. Please call to discuss fetal sexing in twins with one of our clinicians if you are having a twin pregnancy. 

  • How is the VeriSeq V2 by Illumina NIPT performed?
    When you attend for your appointment you will be asked to complete a short questionnaire to ensure that you are suitable to have the test performed. An ultrasound with our consultant obstetrician will always be performed prior to the blood test. This ensures that the pregnancy is developing healthily and growing well. Your estimated due date will be confirmed to ensure that you are at least 10 weeks pregnant. The test can only be performed if you are over 10 weeks gestation. Our consultant obstetrician will discuss the risks and benefits of the test with you to ensure you understand the test. Once the scan has been completed and you are sure you wish to proceed with the test you will be asked to read and complete a written consent form. Our consultant will guide you through the process. A simple blood test is then taken from the vein of the mother's arm. There is no risk to your baby from having this blood test performed. The sample is immediately dispatched to the laboratory for processing and analysis. The results are normally received by The Pregnancy Experts within 5-7 working days. The results will determine if you have a low or high probability of the conditions you have chosen to have tested. We will email or post a copy of your results to you at your convenience. If a high probability result is received our consultant obstetrician will discuss pathways of care with you. This can be done face to face or over the telephone, whichever is more convenient for you. We recommend that if you have any questions about NIPT then please contact us and we can discuss further with you.
  • Is the NIPT recommended?
    All pregnant women are offered combined screening in the 1st trimester of pregnancy to test for chromosomal conditions as part of their routine NHS care. The NIPT test works differently to the standard NHS tests and has been shown to be significantly more accurate. Therefore some women may choose to have the NIPT performed for more reassurance. The test can be performed earlier than standard NHS combined screening. The test is particularly recommended for pregnant women over the age of 35, those with a high chance screening result in their current pregnancy, or women who have previously had a pregnancy with a chromosomal condition. Some women opt for the test to avoid unnecessary invasive testing in their pregnancy, which carries a small risk of miscarriage.
  • How long does it take to get a result?
    Results are usually received by The Pregnancy experts within 5-7 working days. As soon as the result is received, the clinic team will call you to explain the result. An copy of the results will be emailed to your chosen email address so that they can be added to your maternity pregnancy record.
  • What happens if a result is not obtained?
    Occasionally the laboratory cannot obtain a test result on the sample. This is often because there is not enough cfDNA in the sample resulting in the result not meeting quality assurance checks. If a 'No Result Test Failure' result is received from the laboratory we will invite you back to the Pregnancy Experts clinic to have a further scan and repeat blood test performed. There will be no charge for this.
  • What result will I receive from my test?
    The NIPT test will determine whether you have a low or high probability of your baby having Down, Edward's or Patau's syndrome. The test is a screening test, i.e. it will give a probability and not a 100% definitive yes/no result. However: If you receive a low probability result, the likelihood of your baby being affected by each of the conditions is less than 1 in 10,000. If you receive a high probability result, this will specify which specific condition your baby is at high probability from having. The test does not confirm that your baby has this condition, as this is a screening test only. Therefore a positive result will be discussed with you by our consultant obstetrician who will advise on further options. If you opted to have the sex of your baby tested this will be detailed on the report. If you receive a 'No Result' test result this is inconclusive. This result means neither that your baby has a low or high probability result. This is most commonly because there was not enougfh cfDNA in the blood sample sent for processing and teh test did not meet the minimum quality assurance standards for a result to be issued. In this circumstance we will invite you back to the clinic for a further ultrasound scan and repeat blood test. There is no additional charge for this. the results will be discussed with you over the telephone and a copy of the report will be emailed to you to include in your maternity records.
  • Will I always get a test result?
    There is a small risk of not being able to obtain a result. The risk of this is increased by: - Maternal weight greater than 85kg - Twin pregnancies - IVF pregnancies - Mothers on certain medications In the circumstances above it may be worth considering delaying our test by 1-2 weeks to perform the test as this will increase the amount of cfDNA available in the maternal blood stream for testing, thus reducing the chances of a no-result.
  • How does NIPT differ from NHS screening?
    The NHS currently offers screening for Down, Edward's and Patau's syndrome using the combined screening test. This is a combination of the measurement of the fluid behind your baby's neck on scan between 11-14 weeks gestation and a blood sample that measures hormone levels in the mother's blood. The combined test has a detection rate of 84%. The positive predictive value of the test (the actual number of babies that have the condition with a high probability test result) is less than 15%. As the combined test is a screening test, anyone who has a high probability result will be offered a diagnostic invasive test to see if their baby is actually affected by the condition. A diagnostic invasive test is an amniocentesis or chorionic villous sampling. Both of these tests require a needle through the mother's tummy to extract your baby's DNA from either the placenta or fluid around baby. These tests report a miscarriage rate of 1 in 100. Given the positive predictive value of the test this means that over 5 out of 6 pregnancies with a high probability test will have an unnecessary invasive test performed. NIPT is a far more accurate test that has been introduced since combined screening commenced. The detection rate of NIPT is 99% with a positive predictive value of 48-99% depending on several maternal and fetal factors. The predictive value for each condition is different and this will be discussed with you prior to the test. However, use of NIPT as a screening test will result in the test detecting more affected babies and result in fewer unnecessary invasive tests being performed. If you wish to discuss the NIPT then please feel free to call or message and we will be happy to discuss further.
  • Will the NIPT detect other conditions in my baby?
    The NIPT is designed as a screening test to determine the probability of your baby being affected by Down, Edward's and Patau's syndrome. As NIPT is a screening test the result is not 100%. In a small number of cases a low probability result will be received despite the baby having one of the conditions. Conversely, a high probability result may be received for a baby that does not have the condition. Fetal sex can be determined by the test if you wish for this to be undertaken. In some rare circumstances the laboratory may not be able to provide this information. The NIPT can also be used to test for rarer conditions called sex chromosome aneuploidies if you wish to have this. It should be noted that the positive predictive value for these conditions is much lower than Down, Edward's and Patau's syndrome. This will be discussed as part of your pre-test discussions. The NIPT cannot detect structural or developmental problems in your baby. The NIPT cannot detect problems with your baby's growth or placenta. These problems are normally detected on ultrasound scans in the 2nd trimester of pregnancy. If you wish for further reassurance our consultant obstetrician specialises in fetal medicine and can perform anatomy scans from 16 weeks of pregnancy.
  • Can I have more information about chromosomal conditions?
    More information about chromosomal conditions can be found here: Illumina NIPT test - patient information Down Syndrome Association Patau's Syndrome Edward's Syndrome Turner Syndrome Kleinfelters Syndrome Screening tests for you and your baby
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